142:
1184:, and an inability to sleep for more than a few hours at a time. This disorder tends to have three main stages. During the first stage, early mental and motor skill development may be somewhat delayed. Affected children show a marked decline in learning between ages 2 and 6, followed by eventual loss of language skills and loss of some or all hearing. Some children may never learn to speak. In the syndrome's second stage, aggressive behavior, hyperactivity, profound dementia, and irregular sleep may make children difficult to manage, particularly those who retain normal physical strength. In the syndrome's last stage, children become increasingly unsteady on their feet and most are unable to walk by age 10.
1287:, in which extreme amounts of fluid are retained in the body. Survival is usually a few months or less. Most children with Sly syndrome are less severely affected. Neurological symptoms may include mild to moderate intellectual disability by age 3, communicating hydrocephalus, nerve entrapment, corneal clouding, and some loss of peripheral and night vision. Other symptoms include short stature, some skeletal irregularities, joint stiffness and restricted movement, and umbilical and/or inguinal hernias. Some patients may have repeated bouts of pneumonia during their first years of life. Most children with Sly syndrome live into the teenage or young adult years.
1132:, is less severe than Hurler syndrome alone. Symptoms generally begin between ages 3 and 8. Children may have moderate intellectual disability and learning difficulties. Skeletal and systemic irregularities include short stature, marked smallness in the jaws, progressive joint stiffness, compressed spinal cord, clouded corneas, hearing loss, heart disease, coarse facial features, and umbilical hernia. Respiratory problems, sleep apnea, and heart disease may develop in adolescence. Some persons with MPS I H-S need continuous positive airway pressure during sleep to ease breathing. Life expectancy is generally into the late teens or early twenties.
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1234:, is estimated to occur in 1 in 700,000 births. Its two subtypes result from the missing or deficient enzymes N-acetylgalactosamine-6-sulfatase (GALNS) (Type A) or beta-galactosidase (Type B) needed to break down the keratan sulfate sugar chain. Clinical features are similar in both types but appear milder in Morquio Type B. Onset is between ages 1 and 3. Neurological complications include spinal nerve and nerve root compression resulting from extreme, progressive skeletal changes, particularly in the ribs and chest; conductive and/or neurosensitive loss of hearing and clouded corneas. Intelligence is normal unless
381:, meaning that only individuals inheriting the defective gene from both parents are affected. (The exception is MPS II, or Hunter syndrome, in which the mother alone passes along the defective gene to a son.) When both people in a couple have the defective gene, each pregnancy carries with it a one in four chance that the child will be affected. The parents and siblings of an affected child may have no sign of the disorder. Unaffected siblings and select relatives of a child with one of the mucopolysaccharidoses may carry the recessive gene and could pass it to their own children.
166:
1099:(where the umbilical cord passes through the abdomen) hernias. Growth in height may be faster than normal but begins to slow before the end of the first year and often ends around age 3. Many children develop a short body trunk and a maximum stature of less than 4 feet. Distinct facial features (including flat face, depressed nasal bridge, and bulging forehead) become more evident in the second year. By age 2, the ribs have widened and are oar-shaped. The
1335:. Sleep studies can assess airway status and the possible need for nighttime oxygen. Some patients may require surgical insertion of an endotrachial tube to aid breathing. Surgery can also correct hernias, help drain excessive cerebrospinal fluid from the brain, and free nerves and nerve roots compressed by skeletal and other abnormalities. Corneal transplants may improve vision among patients with significant corneal clouding.
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33:
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1125:, retinal degeneration, and clouded corneas may significantly impair vision. Other problems include carpal tunnel syndrome or other nerve compression, stiff joints, claw hands and deformed feet, a short neck, and aortic valve disease. Some affected individuals also have obstructive airway disease and sleep apnea. Persons with Scheie syndrome can live into adulthood.
360:(another principal component of living cells) are stored, in addition to sugars. Persons with mucolipidosis may share some of the clinical features associated with the mucopolysaccharidoses (certain facial features, bony structure abnormalities, and damage to the brain), and increased amounts of the enzymes needed to break down the lipids are found in the blood.
1263:. Caused by the deficient enzyme N-acetylgalactosamine 4-sulfatase, Maroteaux-Lamy syndrome has a variable spectrum of severe symptoms. Neurological complications include clouded corneas, deafness, thickening of the dura (the membrane that surrounds and protects the brain and spinal cord), and pain caused by compressed or traumatized nerves and nerve roots.
1384:(UCBT) have had limited success in treating the mucopolysaccharidoses. Abnormal physical characteristics, except for those affecting the skeleton and eyes, may be improved, but neurologic outcomes have varied. BMT and UCBT are high-risk procedures and are usually performed only after family members receive extensive evaluation and counseling.
407:
Seven distinct clinical types and numerous subtypes of the mucopolysaccharidoses have been identified. Although each mucopolysaccharidosis (MPS) differs clinically, most patients generally experience a period of normal development followed by a decline in physical and/or mental function. (Note: MPS-V
228:
Individuals with mucopolysaccharidosis either do not produce enough of one of the eleven enzymes required to break down these sugar chains into simpler molecules, or they produce enzymes that do not work properly. Over time, these GAGs collect in the cells, blood and connective tissues. The result is
1085:
or α-L-iduronidase deficiency), is the most severe of the MPS I subtypes. Developmental delay is evident by the end of the first year, and patients usually stop developing between ages 2 and 4. This is followed by progressive mental decline and loss of physical skills. Language may be limited due to
376:
It is estimated that 1 in 25,000 babies born in the United States will have some form of the mucopolysaccharidoses. Approximately 1 in 100,000 newborns will experience severe mucopolysaccharidosis type I, while approximately 1 in 500,000 newborns will experience attenuated mucopolysaccharidosis type
297:
Depending on the mucopolysaccharidosis subtype, affected individuals may have normal intellect or have cognitive impairments, may experience developmental delay, or may have severe behavioral problems. Many individuals have hearing loss, either conductive (in which pressure behind the eardrum causes
236:
family, a group of genetic disorders that result when the lysosome organelle in animal cells malfunctions. The lysosome can be thought of as the cell's recycling center because it processes unwanted material into other substances that the cell can utilize. Lysosomes break down this unwanted matter
1349:
is an enzymatic replacement therapy for alpha-L-iduronidase produced by BioMarin for use in Type I MPS. In May 2005, galsulfase (under the name
Naglazyme), a recombinant enzyme replacement therapy also produced by Biomarin was approved for MPS VI (Marateaux-Lamy syndrome). In July 2006, the United
1246:
of the hips, knees, ankles, and wrists. The bones that stabilize the connection between the head and neck can be malformed (odontoid hypoplasia); in these cases, a surgical procedure called spinal cervical bone fusion can be lifesaving. Restricted breathing, joint stiffness, and heart disease are
1311:
deficiency. Symptoms included nodular soft-tissue masses located around joints, with episodes of painful swelling of the masses and pain that ended spontaneously within 3 days. Pelvic radiography showed multiple soft-tissue masses and some bone erosion. Other traits included mild facial changes,
1266:
Growth is normal at first but stops suddenly around age 8. By age 10 children have developed a shortened trunk, crouched stance, and restricted joint movement. In more severe cases, children also develop a protruding abdomen and forward-curving spine. Skeletal changes (particularly in the pelvic
1203:
sugar chain. Little clinical difference exists between these four types but symptoms appear most severe and seem to progress more quickly in children with type A. The average duration of
Sanfilippo syndrome is 8 to 10 years following onset of symptoms. Most persons with MPS III live into their
1156:. Hunter syndrome has two clinical subtypes and (since it shows X-linked recessive inheritance) is the only one of the mucopolysaccharidoses in which the mother alone can pass the defective gene to a son. The incidence of Hunter syndrome is estimated to be 1 in 100,000 to 150,000 male births.
1111:
are often enlarged. Children may experience noisy breathing and recurring upper respiratory tract and ear infections. Feeding may be difficult for some children, and many experience periodic bowel problems. Children with Hurler syndrome often die before age 10 from obstructive airway disease,
261:
The mucopolysaccharidoses share many clinical features but have varying degrees of severity. These features may not be apparent at birth but progress as storage of GAGs affects bone, skeletal structure, connective tissues, and organs. Neurological complications may include damage to
389:
Diagnosis often can be made through clinical examination and urine tests (excess mucopolysaccharides are excreted in the urine). Enzyme assays (testing a variety of cells or body fluids in culture for enzyme deficiency) are also used to provide definitive diagnosis of one of the
1270:
An enzyme replacement therapy was tested on patients with MPS VI and was successful in that it improved growth and joint movement. An experiment was then carried out to see whether an injection of the missing enzyme into the hips would help the range of motion and pain.
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can verify if a fetus either carries a copy of the defective gene or is affected with the disorder. Genetic counseling can help parents who have a family history of the mucopolysaccharidoses determine if they are carrying the mutated gene that causes the disorders.
1121:, is the mildest form of MPS I. Symptoms generally begin to appear after age 5, with diagnosis most commonly made after age 10. Children with Scheie syndrome have normal intelligence or may have mild learning disabilities; some may have psychiatric problems.
1283:, one of the least common forms of the mucopolysaccharidoses, is estimated to occur in fewer than one in 250,000 births. The disorder is caused by deficiency of the enzyme beta-glucuronidase. In its rarest form, Sly syndrome causes children to be born with
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hearing loss and an enlarged tongue. In time, the clear layers of the cornea become clouded and retinas may begin to degenerate. Carpal tunnel syndrome (or similar compression of nerves elsewhere in the body) and restricted joint movement are common.
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Thickened skin and mild changes in facial features, bone, and skeletal structures become noticeable with age. Growth in height usually stops by age 10. Other problems may include narrowing of the airway passage in the throat and enlargement of the
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Currently there is no cure for these disorders. Medical care is directed at treating systemic conditions and improving the person's quality of life. Physical therapy and daily exercise may delay joint problems and improve the ability to move.
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Physical growth slows generally around the age of 18 months, and stops completely by the age of 8. Skeletal abnormalities include a bell-shaped chest, a flattening or curvature of the spine, shortened long bones, and
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Sanfilippo A is the most severe of the MPS III disorders and is caused by the missing or altered enzyme heparan N-sulfatase. Children with
Sanfilippo A have the shortest survival rate among those with the MPS III
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via enzymes, highly specialized proteins essential for survival. Lysosomal disorders like mucopolysaccharidosis are triggered when a particular enzyme exists in too small an amount or is missing altogether.
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Physical symptoms generally include coarse or rough facial features (including a flat nasal bridge, thick lips, and enlarged mouth and tongue), short stature with disproportionately short trunk (
302:—in which the normal reabsorption of cerebrospinal fluid is blocked and causes increased pressure inside the head—is common in some of the mucopolysaccharidoses. Surgically inserting a
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Nodular soft-tissue masses around joints, episodes of painful swelling of the masses, short-term pain, mild facial changes, short stature, normal joint movement, normal intelligence
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estimate that 1 in 100,000 babies born has Hurler syndrome. The estimate for Scheie syndrome is one in 500,000 births and for Hurler-Scheie syndrome it is one in 115,000 births.
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fluid from the lining of the middle ear to build up and eventually congeal), neurosensory (in which tiny hair cells in the inner ear are damaged), or both. Communicating
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Poorthuis BJ, Wevers RA, Kleijer WJ, Groener JE, de Jong JG, van Weely S, et al. (1999). "The frequency of lysosomal storage diseases in The
Netherlands".
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Changes to the diet will not prevent disease progression, but limiting milk, sugar, and dairy products has helped some individuals experiencing excessive
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region) are progressive and limit movement. Many children also have umbilical or inguinal hernias. Nearly all children have some form of heart disease.
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1370:(Mepsevii) is a recombinant human lysosomal beta glucuronidase for MPS VII (Sly syndrome) approved in the United States in November 2017 (
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There are four distinct types of
Sanfilippo syndrome, each caused by alteration of a different enzyme needed to completely break down the
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is divided into three subtypes based on severity of symptoms. All three types result from an absence of, or insufficient levels of, the
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can restrict hand mobility and function. Recurring respiratory infections are common, as are obstructive airway disease and obstructive
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Surgery to remove tonsils and adenoids may improve breathing among affected individuals with obstructive airway disorders and
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Corneal clouding in a 30-year-old male with MPS-VI. Several other MPS disorders may also present with corneal clouding.
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A 16-year-old male with rapidly progressing MPS-VI, showing characteristic facial features and skeletal abnormalities
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also common. Children with the more severe form of
Morquio syndrome may not live beyond their twenties or thirties.
329:(abnormal bone size and/or shape) and other skeletal irregularities, thickened skin, enlarged organs such as liver (
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permanent, progressive cellular damage which affects appearance, physical abilities, organ and system functioning.
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Although no studies have been done to determine the frequency of MPS I in the United States, studies in
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349:. Many affected individuals also have heart disease, often involving enlarged or diseased heart valves.
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Sanfilippo C results from the missing or altered enzyme acetyl-CoAlpha-glucosaminide acetyltransferase.
341:, and excessive body hair growth. Short and often claw-like hands, progressive joint stiffness, and
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acquired short stature as seen in other MPS disorders, and normal joint movement and intelligence.
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The incidence of
Sanfilippo syndrome (for all four types combined) is about one in 70,000 births.
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to sensory organs such as the eyes and to other organs, muscles, and tissues throughout the body.
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Sanfilippo D is caused by the missing or deficient enzyme N-acetylglucosamine 6-sulfatase.
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Nelson J (December 1997). "Incidence of the mucopolysaccharidoses in
Northern Ireland".
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Sanfilippo B is caused by the missing or deficient enzyme alpha-N-acetylglucosaminidase.
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1396:— a morphologic abnormality of white blood cells associated with mucopolysaccharidosis
1196:, making it difficult to eat or swallow. Recurring respiratory infections are common.
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Another lysosomal storage disease often confused with the mucopolysaccharidoses is
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A child with an unspecified MPS disorder, showing characteristic facial features
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Affected children may be quite large at birth and appear normal but may have
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has proven useful in reducing non-neurological symptoms and pain. Currently
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1003:, skeletal dysplasia, short stature, corneal clouding, developmental delay
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1487:. Philadelphia: Wolters Kluwer Health/Lippincott Williams & Wilkins.
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Mucopolysaccharidosis has an autosomal recessive pattern of inheritance.
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623:(similar, but milder, symptoms to MPS I). This type exceptionally has
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and MPS-VIII are no longer in use as designations for any disease.)
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or iduronate sulfatase deficiency, is caused by lack of the enzyme
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356:. In this disorder, excessive amounts of fatty materials known as
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193:(GAGs). These long chains of sugar carbohydrates occur within the
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266:(which send and receive signals throughout the body) as well as
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221:. GAGs (formerly called mucopolysaccharides) are also found in
1602:"Aldurazyme (laronidase) for MPS I and approved in April 2003"
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and impaired motor function. This results from compression of
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produces enzyme replacement therapies for MPS type I and VI.
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1429:
National
Institute of Neurological Disorders and Stroke
1073:. Children born to an MPS I parent carry the defective
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often becomes cloudy from intracellular storage, and
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1455:"Mucopolysaccharidosis type I: MedlinePlus Genetics"
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57:. Unsourced material may be challenged and removed.
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1112:respiratory infections, and cardiac complications.
1479:Marks DB, Swanson T, Kim SI, Glucksman M (2007).
1510:Author: Maryam Banikazemi. Updated: Apr 14, 2009
1354:approved a synthetic version of I2S produced by
390:mucopolysaccharidoses. Prenatal diagnosis using
1307:) had been reported. The disorder results from
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8:
758:Heparan-α-glucosaminide N-acetyltransferase
182:caused by the absence or malfunctioning of
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306:into the brain can drain fluid. The eye's
232:The mucopolysaccharidoses are part of the
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117:Learn how and when to remove this message
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1176:, aggressive behavior, hyperactivity,
318:also may affect the patient's vision.
189:needed to break down molecules called
1653:Highlights of Prescribing Information
1646:"MEPSEVIITM (vestronidase alfa-vjbk)"
1204:teenage years, and some live longer.
7:
1655:. U.S. Food and Drug Administration.
1382:umbilical cord blood transplantation
1172:symptoms. These include progressive
942:, short stature, motor dysfunction,
55:adding citations to reliable sources
1301:Online Mendelian Inheritance in Man
841:, short stature, motor dysfunction
1483:Biochemistry and molecular biology
1425:"Mucopolysaccharidoses Face Sheet"
1362:, as a treatment for MPS type II (
893:See MPS IS (Scheie syndrome) above
377:I. Most mucopolysaccharidoses are
25:
1862:Proteoglycan metabolism disorders
929:N-acetylgalactosamine-4-sulfatase
1836:MPS IX: Hyaluronidase deficiency
223:the fluids that lubricate joints
31:
1826:MPS VI: Maroteaux-Lamy syndrome
791:N-acetylglucosamine 6-sulfatase
42:needs additional citations for
1:
1857:Autosomal recessive disorders
1632:Drugs@FDA: FDA-Approved Drugs
1431:. 15 Nov 2017. Archived from
1295:As of 2001, only one case of
1238:develops and is not treated.
824:Galactose-6-sulfate sulfatase
686:, death by the second decade
379:autosomal recessive disorders
1816:MPS III: Sanfilippo syndrome
1352:Food and Drug Administration
1180:, some deafness and loss of
570:Mucopolysaccharidosis type V
1378:Bone marrow transplantation
1356:Shire Pharmaceuticals Group
417:Main mucopolysaccharidoses
1878:
1764:Lysosomal storage diseases
1604:. BioMarin. Archived from
1339:Enzyme replacement therapy
689:1:280,000 – 1:50,000
630:1:100,000-1:150,000 males
1400:Lysosomal storage disease
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396:chorionic villus sampling
280:peripheral nervous system
234:lysosomal storage disease
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1821:MPS IV: Morquio syndrome
1021:Hyaluronidase deficiency
314:and degeneration of the
1811:MPS II: Hunter syndrome
1772:carbohydrate metabolism
1343:BioMarin Pharmaceutical
1257:Maroteaux–Lamy syndrome
996:Chondroitin 4,6-sulfate
905:Maroteaux–Lamy syndrome
725:N-acetylglucosaminidase
621:Intellectual disability
503:Intellectual disability
66:"Mucopolysaccharidosis"
1800:Hurler–Scheie syndrome
1255:Children with MPS VI,
1168:, is marked by severe
1130:Hurler–Scheie syndrome
646:Sulfamidase deficiency
546:Hurler–Scheie syndrome
511:coarse facial features
373:
343:carpal tunnel syndrome
274:or nerve roots in the
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1831:MPS VII: Sly syndrome
1776:Mucopolysaccharidoses
1580:10.1007/s004390051078
1537:10.1007/s004390050641
1081:MPS I H (also called
833:Chondroitin 6-sulfate
452:Accumulated products
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256:
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176:Mucopolysaccharidoses
135:Mucopolysaccharidosis
18:Mucopolysaccharidoses
1394:Alder–Reilly anomaly
519:retinal degeneration
51:improve this article
1166:Sanfilippo syndrome
1154:iduronate sulfatase
1071:alpha-L-iduronidase
770:Sanfilippo syndrome
737:Sanfilippo syndrome
700:Sanfilippo syndrome
676:Developmental delay
666:Heparan sulfamidase
641:Sanfilippo syndrome
607:Iduronate sulfatase
418:
180:metabolic disorders
1095:(in the groin) or
940:skeletal dysplasia
839:skeletal dysplasia
625:X-linked recessive
531:hepatosplenomegaly
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374:
286:that connects the
282:, the part of the
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241:Signs and symptoms
191:glycosaminoglycans
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1608:on 1 October 2020
1494:978-0-7817-8624-9
1435:on 18 August 2016
1368:Vestronidase alfa
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1017:Natowicz syndrome
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684:motor dysfunction
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449:Deficient enzyme
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992:Dermatan sulfate
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934:Dermatan sulfate
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855:Morquio syndrome
803:Morquio syndrome
705:NAGLU deficiency
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876:β-galactosidase
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489:α-L-iduronidase
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1672:Classification
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1664:External links
1662:
1659:
1658:
1637:
1619:
1593:
1574:(1–2): 151–6.
1568:Human Genetics
1558:
1525:Human Genetics
1512:
1500:
1493:
1471:
1446:
1410:
1409:
1407:
1404:
1403:
1402:
1397:
1389:
1386:
1317:
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1126:
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1048:
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1038:
1035:
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1006:<1:250,000
1004:
998:
985:
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977:
970:
965:
956:
950:
949:
947:
936:
931:
926:
923:
916:
911:
902:
896:
895:
890:
884:
883:
878:
873:
870:
863:
858:
852:
846:
845:
842:
835:
826:
821:
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811:
806:
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794:
793:
788:
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773:
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734:
728:
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722:
719:
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707:
697:
691:
690:
687:
682:, spasticity,
673:
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653:
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628:
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548:
543:
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527:cardiomyopathy
500:
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486:
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476:
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442:
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412:Overview table
410:
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401:
386:
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365:
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284:nervous system
242:
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171:
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157:
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128:
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39:
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30:
24:
14:
13:
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9:
6:
4:
3:
2:
1874:
1863:
1860:
1858:
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1854:
1852:
1837:
1834:
1832:
1829:
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1824:
1822:
1819:
1817:
1814:
1812:
1809:
1805:
1801:
1797:
1794:
1793:
1792:
1789:
1788:
1786:
1782:
1777:
1773:
1769:
1768:Inborn errors
1765:
1758:
1753:
1751:
1746:
1744:
1739:
1738:
1735:
1722:
1718:
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1707:
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1698:
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1569:
1562:
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1554:
1550:
1546:
1542:
1538:
1534:
1530:
1526:
1519:
1517:
1513:
1509:
1504:
1501:
1496:
1490:
1485:
1484:
1475:
1472:
1460:
1456:
1450:
1447:
1434:
1430:
1426:
1420:
1418:
1416:
1412:
1405:
1401:
1398:
1395:
1392:
1391:
1387:
1385:
1383:
1379:
1375:
1373:
1369:
1365:
1361:
1357:
1353:
1348:
1344:
1340:
1336:
1334:
1329:
1327:
1322:
1315:
1313:
1310:
1309:hyaluronidase
1306:
1302:
1298:
1290:
1288:
1286:
1282:
1274:
1272:
1268:
1264:
1262:
1258:
1250:
1248:
1245:
1239:
1237:
1236:hydrocephalus
1233:
1225:
1223:
1217:
1214:
1211:
1207:
1206:
1205:
1202:
1197:
1195:
1191:
1185:
1183:
1179:
1175:
1171:
1167:
1159:
1157:
1155:
1151:
1143:
1141:
1139:
1131:
1127:
1124:
1120:
1116:
1115:
1110:
1106:
1102:
1098:
1094:
1090:
1089:
1084:
1080:
1079:
1078:
1076:
1072:
1069:
1065:
1058:
1052:
1049:
1047:
1044:
1042:
1041:Hyaluronidase
1039:
1036:
1034:
1033:
1029:
1027:
1024:
1018:
1015:
1013:
1010:
1009:
1005:
1002:
999:
997:
993:
989:
986:
984:
981:
978:
976:
975:
971:
969:
966:
960:
957:
955:
952:
951:
948:
945:
941:
937:
935:
932:
930:
927:
924:
922:
921:
917:
915:
912:
906:
903:
901:
898:
897:
894:
889:
886:
885:
882:
879:
877:
874:
871:
869:
868:
864:
862:
859:
856:
853:
851:
848:
847:
840:
834:
830:
827:
825:
822:
819:
817:
816:
812:
810:
807:
804:
801:
799:
796:
795:
792:
789:
786:
784:
783:
779:
777:
774:
771:
768:
766:
763:
762:
759:
756:
753:
751:
750:
746:
744:
741:
738:
735:
733:
730:
729:
726:
723:
720:
718:
717:
713:
711:
708:
701:
698:
696:
693:
692:
685:
681:
680:hyperactivity
677:
672:
667:
664:
661:
659:
658:
654:
652:
649:
642:
639:
637:
634:
633:
629:
626:
622:
619:
617:
613:
610:
608:
605:
602:
600:
599:
595:
593:
590:
588:
585:
583:
580:
579:
576:
573:
569:
564:
561:
559:
556:
555:
552:
549:
547:
544:
542:
539:
538:
532:
528:
524:
520:
516:
512:
508:
504:
499:
495:
490:
482:
481:
475:
472:
470:
467:
465:
462:
461:
457:
454:
451:
448:
446:
443:
441:
438:
436:
433:
430:
424:
421:
420:
411:
409:
402:
400:
397:
393:
392:amniocentesis
384:
382:
380:
370:
363:
361:
359:
355:
354:mucolipidosis
350:
348:
344:
340:
336:
333:) or spleen (
332:
328:
324:
319:
317:
313:
309:
305:
301:
300:hydrocephalus
295:
293:
289:
285:
281:
277:
273:
269:
265:
255:
247:
240:
238:
235:
230:
226:
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220:
216:
212:
208:
204:
200:
196:
192:
188:
185:
181:
177:
167:
161:
160:Endocrinology
158:
156:
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143:
138:
133:
121:
118:
110:
107:November 2020
99:
96:
92:
89:
85:
82:
78:
75:
71:
68: –
67:
63:
62:Find sources:
56:
52:
46:
45:
40:This article
38:
34:
29:
28:
19:
1775:
1714:
1699:
1684:
1652:
1640:
1631:
1622:
1610:. Retrieved
1606:the original
1596:
1571:
1567:
1561:
1531:(3): 355–8.
1528:
1524:
1503:
1482:
1474:
1462:. Retrieved
1458:
1449:
1437:. Retrieved
1433:the original
1376:
1337:
1330:
1323:
1319:
1294:
1281:Sly syndrome
1278:
1269:
1265:
1254:
1240:
1229:
1221:
1198:
1186:
1170:neurological
1163:
1147:
1135:
1062:
1030:
1011:
1001:Hepatomegaly
972:
959:Sly syndrome
953:
918:
899:
892:
887:
865:
849:
844:1 in 75,000
813:
797:
780:
764:
747:
731:
714:
694:
655:
635:
627:inheritance
596:
581:
567:
557:
540:
515:macroglossia
507:micrognathia
478:
463:
428:
406:
388:
375:
351:
335:splenomegaly
331:hepatomegaly
320:
296:
260:
231:
227:
175:
174:
113:
104:
94:
87:
80:
73:
61:
49:Please help
44:verification
41:
1628:"Naglazyme"
1333:sleep apnea
1128:MPS I H-S,
429:Other names
425:Common name
347:sleep apnea
292:spinal cord
276:spinal cord
1851:Categories
1784:Catabolism
1464:30 January
1406:References
1380:(BMT) and
1372:Ultragenyx
1347:Aldurazyme
1209:disorders.
535:1:100,000
525:clouding,
458:Incidence
278:or in the
77:newspapers
1358:, called
1316:Treatment
1279:MPS VII,
1244:dysplasia
1164:MPS III,
1117:MPS I S,
1097:umbilical
678:, severe
568:Formerly:
455:Symptoms
385:Diagnosis
327:dysplasia
203:cartilage
184:lysosomal
155:Specialty
1588:10480370
1553:23099247
1388:See also
1360:Elaprase
1303:(OMIM):
1230:MPS IV,
1194:adenoids
1178:seizures
1174:dementia
1148:MPS II,
1123:Glaucoma
1093:inguinal
1037:3p21.31
979:7q11.21
944:kyphosis
820:16q24.3
787:12q14.3
765:MPS IIID
754:8p11.21
732:MPS IIIC
721:17q21.2
695:MPS IIIB
662:17q25.3
636:MPS IIIA
541:MPS IH/S
364:Genetics
323:dwarfism
312:glaucoma
1721:D009083
1612:12 June
1545:9439667
1350:States
1275:MPS VII
1190:tonsils
1160:MPS III
954:MPS VII
938:Severe
925:5q14.1
872:3p22.3
850:MPS IVB
837:Severe
798:MPS IVA
523:corneal
485:4p16.3
339:hernias
264:neurons
211:corneas
207:tendons
187:enzymes
91:scholar
1586:
1551:
1543:
1491:
1439:11 May
1305:601492
1297:MPS IX
1291:MPS IX
1251:MPS VI
1226:MPS IV
1182:vision
1144:MPS II
1107:, and
1105:spleen
1068:enzyme
1026:601492
1012:MPS IX
968:253220
914:253200
900:MPS VI
861:253010
809:253000
776:252940
749:HGSNAT
743:252930
710:252920
651:252900
592:309900
582:MPS II
575:607016
558:MPS IS
551:607015
474:607014
464:MPS IH
358:lipids
316:retina
308:cornea
272:nerves
162:
93:
86:
79:
72:
64:
1791:MPS I
1710:277.5
1649:(PDF)
1549:S2CID
1326:mucus
1109:heart
1101:liver
1064:MPS I
1059:MPS I
1032:HYAL1
888:MPS V
815:GALNS
716:NAGLU
603:Xq28
445:Locus
422:Type
403:Types
304:shunt
288:brain
195:cells
98:JSTOR
84:books
1716:MeSH
1705:9-CM
1614:2015
1584:PMID
1541:PMID
1489:ISBN
1466:2023
1441:2018
1192:and
1075:gene
974:GUSB
920:ARSB
867:GLB1
657:SGSH
480:IDUA
440:Gene
435:OMIM
394:and
290:and
268:pain
217:and
215:skin
199:bone
70:news
1770:of
1701:ICD
1695:E76
1686:ICD
1576:doi
1572:105
1533:doi
1529:101
1374:).
1366:).
782:GNS
598:IDS
337:),
325:),
53:by
1853::
1802:,
1798:,
1766::
1719::
1708::
1693::
1690:10
1651:.
1630:.
1582:.
1570:.
1547:.
1539:.
1527:.
1515:^
1457:.
1427:.
1414:^
1328:.
1103:,
1077:.
857:B
805:A
772:D
739:C
529:,
521:,
517:,
513:,
509:,
505:,
225:.
213:,
209:,
205:,
201:,
1778:)
1774:(
1756:e
1749:t
1742:v
1703:-
1688:-
1678:D
1634:.
1616:.
1590:.
1578::
1555:.
1535::
1497:.
1468:.
1443:.
1299:(
702:B
643:A
120:)
114:(
109:)
105:(
95:·
88:·
81:·
74:·
47:.
20:)
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